Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Cc2d1a'

578134

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1a

Ensembl Gene

ENSMUSG00000036686

Gene Name

coiled-coil and C2 domain containing 1A

Synonyms

Tape, Freud-1

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R7456 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

84859457-84874546 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 84866868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000040383] [ENSMUST00000040383] [ENSMUST00000040383] [ENSMUST00000117424] [ENSMUST00000117424] [ENSMUST00000117424] [ENSMUST00000117424]

AlphaFold

Q8K1A6

Predicted Effect

probably null
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably damaging	Het

Other mutations in Cc2d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Cc2d1a	APN	8	84,866,894 (GRCm39)	missense	possibly damaging	0.87
IGL01126:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01129:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01133:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01135:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01953:Cc2d1a	APN	8	84,870,607 (GRCm39)	missense	probably benign	0.00
IGL02216:Cc2d1a	APN	8	84,865,942 (GRCm39)	nonsense	probably null
IGL03131:Cc2d1a	APN	8	84,870,056 (GRCm39)	missense	probably damaging	1.00
IGL03268:Cc2d1a	APN	8	84,860,154 (GRCm39)	missense	probably damaging	1.00
IGL03401:Cc2d1a	APN	8	84,861,258 (GRCm39)	missense	probably benign	0.00
Rye	UTSW	8	84,861,599 (GRCm39)	missense	probably damaging	1.00
Taragon	UTSW	8	84,865,166 (GRCm39)	missense	probably damaging	0.96
R0313:Cc2d1a	UTSW	8	84,863,598 (GRCm39)	missense	probably benign	0.38
R0811:Cc2d1a	UTSW	8	84,860,465 (GRCm39)	missense	probably benign	0.23
R0812:Cc2d1a	UTSW	8	84,860,465 (GRCm39)	missense	probably benign	0.23
R0893:Cc2d1a	UTSW	8	84,867,468 (GRCm39)	splice site	probably benign
R1440:Cc2d1a	UTSW	8	84,860,604 (GRCm39)	critical splice donor site	probably null
R1625:Cc2d1a	UTSW	8	84,866,001 (GRCm39)	missense	probably damaging	1.00
R2183:Cc2d1a	UTSW	8	84,867,028 (GRCm39)	missense	probably damaging	1.00
R5155:Cc2d1a	UTSW	8	84,867,755 (GRCm39)	missense	probably benign	0.00
R5959:Cc2d1a	UTSW	8	84,860,132 (GRCm39)	nonsense	probably null
R6046:Cc2d1a	UTSW	8	84,863,571 (GRCm39)	missense	possibly damaging	0.81
R6386:Cc2d1a	UTSW	8	84,865,166 (GRCm39)	missense	probably damaging	0.96
R6956:Cc2d1a	UTSW	8	84,862,528 (GRCm39)	missense	probably damaging	1.00
R6992:Cc2d1a	UTSW	8	84,861,542 (GRCm39)	missense	probably damaging	1.00
R7156:Cc2d1a	UTSW	8	84,862,389 (GRCm39)	missense	possibly damaging	0.69
R7396:Cc2d1a	UTSW	8	84,870,374 (GRCm39)	splice site	probably null
R7787:Cc2d1a	UTSW	8	84,860,144 (GRCm39)	missense	possibly damaging	0.94
R8507:Cc2d1a	UTSW	8	84,861,605 (GRCm39)	missense	probably benign	0.37
R8808:Cc2d1a	UTSW	8	84,861,599 (GRCm39)	missense	probably damaging	1.00
R9524:Cc2d1a	UTSW	8	84,870,744 (GRCm39)	missense	probably benign	0.06
R9563:Cc2d1a	UTSW	8	84,863,758 (GRCm39)	missense	probably benign	0.14
RF007:Cc2d1a	UTSW	8	84,861,298 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGAACTTTCCAGTATCCCTGACG -3'
(R):5'- CGCATGCATGAACGAATTGTC -3'

Sequencing Primer
(F):5'- GACACACTCCAGTCTGGTTAAG -3'
(R):5'- CATGCATGAACGAATTGTCAAGGTG -3'

Posted On

2019-10-07